| PAX6 |
| LOCUS ID | 5080 | ||||||||||
| GENE_SYMBOL | PAX6 | ||||||||||
| GENE NAME | paired box 6 | ||||||||||
| SYNONYMNS | AN, AN2, FVH1, MGDA, WAGR, ASGD5, D11S812E | ||||||||||
| CHROMOSOME | 11 | ||||||||||
| HOMOLOGENE ID | 1212 |
| microRNAs | NA | NA |
| GENE SUMMARY |
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| This gene encodes paired box protein Pax-6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to a conserved paired box domain, a hallmark feature of this gene family, the encoded protein also contains a homeobox domain. Both domains are known to bind DNA and function as regulators of gene transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundreds of k |
| OBSERVATIONS |
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| Complication | Evidence | PMID |
| Retinopathy | 1. A 484-630?kb deletion ?120?kb distal to PAIRED BOX 6 (PAX6) showed dominant cosegregation with aniridia and diabetes in all affected family members. CONCLUSIONS: We demonstrate dominant cosegregation of diabetes and aniridia with a deletion distal to PAX6, which is clinically distinct from the mild glucose intolerance previously reported with PAX6 coding mutations. Asymptomatic aniridia individuals appear at risk of diabetes (and its complications) and could benefit from earlier diagnosis and treatment. | 30572005 |